ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1394G>C (p.Ser465Thr)

dbSNP: rs2114246040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945399 SCV002196833 uncertain significance Peroxisome biogenesis disorder 2021-03-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PEX6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 465 of the PEX6 protein (p.Ser465Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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